Affiliations: Department of Research on children with special needs,
National Research Centre, Cairo, Egypt
Note: [] Corresponding author: Dr/Ola Hosny Gebril, Department Research
on children with special Needs, National Research Centre, Dokki, Cairo, Egypt.
Tel.: +20 2 38351118; Fax: +20 2 33370931; E-mail: [email protected]
Abstract: Background: Autism is among the commonest neurodevelopmental
childhood disorders worldwide; its aetiology is still unknown. Iron metabolism
alteration in the central nervous system is recently implicated as a risk
factor for several neurodegenerative disorders. Haemochromatosis HFE gene polymorphisms (p.H63D and p.C282Y) have
shown significant association with several neurological diseases. Some
evidences show altered iron related proteins in serum of autistic children. The
aim of this work is to conduct a preliminary pilot study for the association of
HFE polymorphisms and autism. Methods: All cases were referred from the clinic of special needs,
National Research Centre, Cairo. Clinical diagnosis was based on the criteria
for autistic disorder as defined in the Diagnostic and Statistical Manual of
Mental Disorders Fourth Edition, Text Revision (DSM-IV-TR). Whole genome DNA was extracted; p.H63D and p.C282Y genotyping was
studied using specific sequence amplification followed by restriction enzyme
digestion on a sample of autism patients (25 cases) and twenty controls. Results: The p.H63D is more abundant than the C282Y among both
autism and control samples. No significant association of p.H63D nor p.C282Y
polymorphism and autism was revealed. Conclusion: We here report on the first pilot study of the possible
genetic association between autism and HFE gene polymorphisms among Egyptians.
Although our results do not prove the role of HFE polymorphisms as risk factors
for autism, yet this does not exclude the role of iron in this prevalent
disorder. Further extended studies are recommended to include other iron
metabolism genes.
